Expanding the phenotype of potassium channelopathy: Severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia

Neuromuscular Disorders

Volumn 14, Issue 10, 2004, Pages 689-693

  Kinali, M ^a   Jungbluth, H ^a   Eunson, L H ^b   Sewry, C A ^a,c   Manzur, A Y ^a   Mercuri, E ^a,d   Hanna, M G ^b   Muntoni, F ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c Oswestry UK ^*  (United Kingdom)

^d CATHOLIC UNIVERSITY   (Italy)

Author keywords

K + channel; KCNA1; Neuromyotonia

Indexed keywords

PHENYTOIN; PROTEIN; PROTEIN KCNA1; UNCLASSIFIED DRUG; VOLTAGE GATED POTASSIUM CHANNEL;

ADULT; ANAMNESIS; ARTICLE; ATAXIA; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ELECTROMYOGRAM; EXERCISE; FEMALE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; JOINT CONTRACTURE; KYPHOSCOLIOSIS; LABORATORY TEST; MALE; MEDICAL EXAMINATION; MOLECULAR GENETICS; MOTOR DEVELOPMENT; MUSCLE HYPERTROPHY; MUSCLE STIFFNESS; MYOKYMIA; NEUROLOGIC EXAMINATION; PERCUSSION; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SKELETON MALFORMATION; TENDON REFLEX;

ADULT; ARGININE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HISTOLOGICAL TECHNIQUES; HUMANS; ISAACS SYNDROME; KV1.1 POTASSIUM CHANNEL; MALE; MUSCLE, SKELETAL; MUTATION; NAD; PHENOTYPE; POTASSIUM CHANNELS, VOLTAGE-GATED; THREONINE;

EID: 4444286698     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2004.06.007     Document Type: Article

References (12)

1. D.L. Browne, S.T. Gancher, and J.G. Nutt Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1 Nat Genet 8 1994 136 140
2. K.P. Bhattia, R.C. Griggs, and L.J. Ptacek Episodic movement disorders as channelopathies Mov Disord 15 2000 429 433
3. E.R.P. Brunt, and T.W. van Weerden Familial paroxysmal kinesigenic ataxia and continuous myokymia Brain 113 1990 1361 1382
4. L.H. Eunson, R. Rea, and S.M. Zuberi Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability Ann Neurol 48 2000 647 656
5. S. Beckh, and O. Pongs Members of the RCK potassium channel family are differentially expressed in the rat nervous system Eur Mol Biol Org 9 1990 777 782
6. A. Vincent Understanding neuromyotonia Muscle Nerve 23 2000 655 657
7. S.M. Zuberi, L.H. Eunson, and A. Spauschus A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy Brain 122 1999 817 825
8. D.L. Browne, E.R.P. Brunt, and R.C. Griggs Identification of two new KCNA1 mutations in episodic ataxia/myokymia families Hum Mol Genet 4 1995 1671 1672
9. G. Scarlato, R. Schoenhuber, and G. Valli Particolarita istoenzimologische in un caso di neuromiotonia Acta Neurol (Napoli) 29 1974 383 393
10. E. Arikawa-Hirasawa, A.H. Le, and I. Nishino Structural and functional mutations of the perlecan gene cause Schwratz-Jampel syndrome, with myotonic myopathy and chondrodysplasia Am J Hum Genet 70 2002 1368 1375
11. S. Nichole, H. Topaloglou, and B. Fontaine 102nd ENMC international workshop on Schwratz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands Neuromuscul Disord 13 2003 347 351
12. S.S. Samisi, and W.S. Lewsley Craniocervical CT and MR imaging of Schwratz-Jampel syndrome Am J Neuroradiol 24 8 2003 1694 1696